title: IL-12Rβ1 deficiency and disseminated Mycobacterium tilburgii disease.
abstract: Mycobacterium tilburgii rarely causes disseminated disease. We describe a case of M. tilburgii infection in an otherwise healthy 33-year-old woman, who was found to carry bi-allelic mutations of the gene encoding the β1 chain of the IL-12 receptor.
authors.affiliation: Immune Deficiencies Treatment Unit, ULB-Erasme, Brussels, Belgium.
authors.forename: Kinda
authors.initials: K
authors.lastname: Schepers
authors.forename: Liliane
authors.initials: L
authors.lastname: Schandené
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Van Vooren
authors.forename: Maylis
authors.initials: M
authors.lastname: de Suremain
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Jean Cyr
authors.initials: JC
authors.lastname: Yombi
authors.forename: Frédérique
authors.initials: F
authors.lastname: Jacobs
authors.forename: Françoise
authors.initials: F
authors.lastname: Mascart
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Goffard
mesh_terms: D000328:Adult; D000483:Alleles; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D005260:Female; D006099:Granuloma / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D008198:Lymph Nodes / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D009154:Mutation / Q000276:immunology; D009161:Mycobacterium / Q000276:immunology; D009165:Mycobacterium Infections, Nontuberculous / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology*; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics; D012008:Recurrence
chemical_list: C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12